Canonical Allele Identifier: CA2678953722

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303355-CTCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303356_44303359del , CM000668.2:g.44303356_44303359del	GRCh38
NC_000006.11:g.44271093_44271096del , CM000668.1:g.44271093_44271096del	GRCh37
NC_000006.10:g.44379071_44379074del	NCBI36
NG_031952.1:g.14968_14971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2072_2075del (AARS2) MANE Select	ENSP00000244571.4:p.Asp691GlyfsTer?
ENST00000244571.4:c.2072_2075del (AARS2)	ENSP00000244571.4:p.Asp691GlyfsTer?
ENST00000438774.2:c.577-3587_577-3584del (TMEM151B)	ENSP00000409337.2:n.577-3587_577-3584del
ENST00000505802.1:c.314-3587_314-3584del
NM_020745.3:c.2072_2075del (AARS2)	NP_065796.1:p.Asp691GlyfsTer?
XM_005249245.2:c.1781_1784del (AARS2)	XP_005249302.1:p.Asp594GlyfsTer?
XM_011514764.1:c.2072_2075del (AARS2)	XP_011513066.1:p.Asp691GlyfsTer?
XR_241907.2:n.2107_2110del (AARS2)
XM_005249245.3:c.1781_1784del (AARS2)	XP_005249302.1:p.Asp594GlyfsTer?
XM_011514764.2:c.2072_2075del (AARS2)	XP_011513066.1:p.Asp691GlyfsTer?
XM_017011112.1:c.782_785del (AARS2)	XP_016866601.1:p.Asp261GlyfsTer?
NM_020745.4:c.2072_2075del (AARS2) MANE Select	NP_065796.2:p.Asp691GlyfsTer?
NM_001318876.2:c.946-138534_946-138531del (POLR1C)	NP_001305805.1:n.946-138534_946-138531del